Symptoms of gaucher's disease
Symptoms of Gaucher disease vary from person to person. Some people with Gaucher disease have mild symptoms or none at all. In other people, symptoms can lead to serious health problems and death. Signs of all three forms of Gaucher disease include: Problems affecting the organs and blood: As fatty chemicals build up in the body, people with Gaucher disease may experience a range of symptoms in the blood and organs. Sometimes the skin develops brown pigmented spots. Symptoms range from mild to severe and include: Anemia: As lipids build up in bone marrow, they destroy red blood cells. Red blood cells carry oxygen throughout the body. Having too few red blood cells is called anemia. Enlarged organs: The spleen and liver get bigger as fatty chemicals build up, which causes the belly to become enlarged and tender. The enlarged spleen destroys platelets (blood cells that help blood clot), leading to a low platelet count and bleeding problems. Bruising, bleeding and clotting issues: A low platelet count causes people with Gaucher disease to bruise easily. Their blood doesn’t clot like it should. They are at risk of heavy or prolonged bleeding, even after minor injuries, surgery or nosebleeds. Fatigue: As a result of anemia, people with Gaucher disease often experience fatigue (feeling tired all the time). Lung problems: Fatty chemicals accumulate in the lungs and make it difficult to breathe. Problems affecting the bones: When bones don’t get the blood, oxygen and nutrients they need, they weaken and break down. People with Gaucher disease may have symptoms in the bones and joints, including: Pain: Decreased blood flow causes pain in the bones. Arthritis, joint pain and joint damage are common signs of Gaucher disease. Osteonecrosis: This condition, also known as avascular necrosis, results from a lack of oxygen reaching the bones. Without enough oxygen, bone tissue fractures into tiny pieces and dies. Bones that fracture easily: Gaucher disease causes osteoporosis, a condition that occurs when the bones don’t get enough calcium. With osteoporosis (and osteopenia, a mild form of osteoporosis), bones can break easily. Weakened bones can lead to skeletal abnormalities